Brendan Lee
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Explore the profile of Brendan Lee including associated specialties, affiliations and a list of published articles.
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261
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7784
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Recent Articles
1.
Zhao S, Macakova K, Sinson J, Dai H, Rosenfeld J, Zapata G, et al.
Am J Hum Genet
. 2025 Mar;
PMID: 40043707
Despite rapid advancements in clinical sequencing, over half of diagnostic evaluations still lack definitive results. RNA sequencing (RNA-seq) has shown promise in research settings for bridging this gap by providing...
2.
Zhao S, Sinson J, Li S, Rosenfeld J, Zapata G, Macakova K, et al.
medRxiv
. 2025 Feb;
PMID: 39974001
Clinical RNA-seq has become an essential tool for resolving variants of uncertain significance (VUS), particularly those affecting gene expression and splicing. However, most reference data and diagnostic protocols employ relatively...
3.
Weisz-Hubshman M, Burrage L, Jangam S, Rosenfeld J, von Hardenberg S, Bergmann A, et al.
Genet Med
. 2025 Feb;
27(4):101369.
PMID: 39891528
Purpose: Polycomb group proteins are key epigenetic transcriptional regulators. Multiple neurodevelopmental disorders are associated with pathogenic variants of the genes encoding Polycomb group proteins. RYBP is a core component of...
4.
Chen Y, Jiang M, Leynes C, Adeyeye M, Majano C, Ibrahim B, et al.
J Clin Invest
. 2025 Jan;
135(1).
PMID: 39744954
ATP-dependent chromatin remodeling protein ATRX is an essential regulator involved in maintenance of DNA structure and chromatin state and regulation of gene expression during development. ATRX was originally identified as...
5.
Aceves-Ewing N, Lanza D, Marcogliese P, Lu D, Hsu C, Gonzalez M, et al.
medRxiv
. 2024 Dec;
PMID: 39677486
Heterozygous pathogenic variants in are associated with oligodontia-colorectal cancer syndrome (ODCRCS), a disorder characterized by oligodontia, colorectal cancer, and in some cases, sparse hair and eyebrows. We have identified four...
6.
Baskir R, Lee M, McMaster S, Lee J, Blackburne-Proctor F, Azuine R, et al.
J Am Med Inform Assoc
. 2024 Nov;
32(1):38-50.
PMID: 39545358
Objectives: The NIH All of Us Research Program (All of Us) is engaging a diverse community of more than 10 000 registered researchers using a robust engagement ecosystem model. We...
7.
Leung H, Ahmadi Z, Lee B, Casey J, Ratnasingam S, McKenzie S, et al.
Blood Adv
. 2024 Sep;
8(22):5744-5752.
PMID: 39293086
Current guidelines for treating vaccine-induced immune thrombotic thrombocytopenia (VITT) recommend nonheparin anticoagulants and IV immunoglobulin (IVIg). However, the efficacy of these treatments remains uncertain due to case studies involving small...
8.
Coleman J, Baker J, Ketkar S, Butler A, Williams L, Hammonds-Odie L, et al.
J Am Med Inform Assoc
. 2024 Sep;
31(12):2857-2868.
PMID: 39269931
Objective: The All of Us Evenings with Genetics (EwG) Research Program at Baylor College of Medicine (BCM), funded to engage research scholars to work with the All of Us data,...
9.
Ritter D, Byun J, Wang J, Richards S, Luna P, Williams L, et al.
J Am Med Inform Assoc
. 2024 Sep;
31(12):2952-2957.
PMID: 39259934
Objective: Educational offerings to fill the bioinformatics knowledge gap are a key component to enhancing access and use of health data from the All of Us Research Program. We developed...
10.
Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, et al.
J Neurodev Disord
. 2024 Sep;
16(1):52.
PMID: 39251895
Background: The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist in accessing genetic services among ethnic minorities, individuals with...